A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078306



Internal ID18969442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20869199..21612152hg38UCSC Ensembl
chr17:20772512..21515419hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38742954
hg19742908
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771696
SamplesKWP1
Known GenesC17orf103, C17orf51, CCDC144NL, DHRS7B, KCNJ12, KCNJ18, LOC440416, MAP2K3, TMEM11, USP22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078306
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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